NDUFA8 (NADH:ubiquinone oxidoreductase subunit A8) - Rat Genome Database

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Gene: NDUFA8 (NADH:ubiquinone oxidoreductase subunit A8) Homo sapiens
Analyze
Symbol: NDUFA8
Name: NADH:ubiquinone oxidoreductase subunit A8
RGD ID: 1314815
HGNC Page HGNC:7692
Description: Predicted to enable NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrial intermembrane space. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CI-19KD; CI-PGIV; complex I PGIV subunit; complex I-19kD; complex I-PGIV; MC1DN37; MGC793; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8; NADH-ubiquinone oxidoreductase 19 kDa subunit; NADH:ubiquinone oxidoreductase PGIV subunit; PGIV
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: NDUFA8P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389122,132,466 - 122,159,779 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9122,144,058 - 122,159,779 (-)EnsemblGRCh38hg38GRCh38
GRCh379124,894,745 - 124,922,058 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369123,946,158 - 123,961,919 (-)NCBINCBI36Build 36hg18NCBI36
Build 349121,985,893 - 122,001,652NCBI
Celera995,554,625 - 95,570,387 (-)NCBICelera
Cytogenetic Map9q33.2NCBI
HuRef994,521,087 - 94,536,866 (-)NCBIHuRef
CHM1_19125,054,401 - 125,070,162 (-)NCBICHM1_1
T2T-CHM13v2.09134,329,934 - 134,357,249 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9150947   PMID:9760212   PMID:9763677   PMID:9860297   PMID:9878551   PMID:10330338   PMID:11349233   PMID:12477932   PMID:12611891   PMID:15489334   PMID:17314511   PMID:17601350  
PMID:18029348   PMID:18977241   PMID:19343046   PMID:20379614   PMID:20877624   PMID:21310150   PMID:21873635   PMID:23209302   PMID:23251661   PMID:23455924   PMID:23676665   PMID:24344204  
PMID:24726327   PMID:25437307   PMID:25678554   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26972000   PMID:27499296   PMID:27626371   PMID:28514442   PMID:28515276   PMID:28844695  
PMID:29111377   PMID:29568061   PMID:30021884   PMID:30030361   PMID:30033366   PMID:30884312   PMID:31073040   PMID:31091453   PMID:31391242   PMID:31527615   PMID:31536960   PMID:31617661  
PMID:31723608   PMID:32203420   PMID:32385911   PMID:32457219   PMID:32687490   PMID:32707033   PMID:32814053   PMID:32877691   PMID:33153867   PMID:33417871   PMID:33660365   PMID:33766124  
PMID:33961781   PMID:34079125   PMID:34349018   PMID:34709727   PMID:34800366   PMID:34901782   PMID:34917906   PMID:35013218   PMID:35063084   PMID:35140242   PMID:35271311   PMID:35877019  
PMID:35944360   PMID:36114006   PMID:36180527   PMID:36180891   PMID:36215168   PMID:36373674   PMID:36724073   PMID:37071682   PMID:37167062   PMID:37314216   PMID:37317656   PMID:37616343  
PMID:37866880   PMID:38096616   PMID:38113892   PMID:39098523  


Genomics

Comparative Map Data
NDUFA8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389122,132,466 - 122,159,779 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9122,144,058 - 122,159,779 (-)EnsemblGRCh38hg38GRCh38
GRCh379124,894,745 - 124,922,058 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369123,946,158 - 123,961,919 (-)NCBINCBI36Build 36hg18NCBI36
Build 349121,985,893 - 122,001,652NCBI
Celera995,554,625 - 95,570,387 (-)NCBICelera
Cytogenetic Map9q33.2NCBI
HuRef994,521,087 - 94,536,866 (-)NCBIHuRef
CHM1_19125,054,401 - 125,070,162 (-)NCBICHM1_1
T2T-CHM13v2.09134,329,934 - 134,357,249 (-)NCBIT2T-CHM13v2.0
Ndufa8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39235,926,336 - 35,939,350 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl235,926,338 - 35,939,418 (-)EnsemblGRCm39 Ensembl
GRCm38236,036,324 - 36,049,338 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl236,036,326 - 36,049,406 (-)EnsemblGRCm38mm10GRCm38
MGSCv37235,891,854 - 35,904,812 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36235,858,343 - 35,871,301 (-)NCBIMGSCv36mm8
Celera235,740,041 - 35,752,999 (-)NCBICelera
Cytogenetic Map2BNCBI
cM Map224.13NCBI
Ndufa8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8339,783,479 - 39,799,507 (-)NCBIGRCr8
mRatBN7.2319,386,062 - 19,402,090 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl319,386,065 - 19,402,071 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx322,464,557 - 22,480,588 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0331,049,481 - 31,065,512 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0329,296,778 - 29,312,780 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0315,362,888 - 15,379,386 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl315,362,824 - 15,379,381 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0320,672,277 - 20,685,979 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4315,146,311 - 15,159,529 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1315,042,657 - 15,058,476 (-)NCBI
Celera314,098,638 - 14,111,855 (-)NCBICelera
Cytogenetic Map3p11NCBI
Ndufa8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554195,903,392 - 5,917,733 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554195,903,392 - 5,917,045 (+)NCBIChiLan1.0ChiLan1.0
NDUFA8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21117,187,324 - 17,203,091 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1917,189,673 - 17,205,504 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0993,268,929 - 93,284,704 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19121,598,510 - 121,625,688 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9121,610,091 - 121,625,688 (-)Ensemblpanpan1.1panPan2
NDUFA8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1960,404,486 - 60,418,234 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl960,404,379 - 60,418,236 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha959,599,651 - 59,613,176 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0961,319,355 - 61,333,635 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl961,319,374 - 61,333,632 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1960,093,716 - 60,107,991 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0960,410,179 - 60,424,517 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0960,498,595 - 60,513,193 (+)NCBIUU_Cfam_GSD_1.0
Ndufa8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947190,773,958 - 190,788,677 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648710,542,101 - 10,557,432 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648710,542,484 - 10,557,199 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDUFA8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1262,236,482 - 262,264,097 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11262,243,225 - 262,258,186 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21294,544,826 - 294,559,785 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NDUFA8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11217,434,527 - 17,450,068 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1217,434,524 - 17,450,352 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603525,599,159 - 25,614,703 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ndufa8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476013,131,769 - 13,149,487 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476013,131,760 - 13,148,001 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NDUFA8
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1 copy number loss See cases [RCV000052922] Chr9:120938041..123469664 [GRCh38]
Chr9:123700319..126231943 [GRCh37]
Chr9:122740140..125271764 [NCBI36]
Chr9:9q33.2-33.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_014222.3(NDUFA8):c.293G>T (p.Arg98Leu) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 37 [RCV001374463] Chr9:122148200 [GRCh38]
Chr9:124910479 [GRCh37]
Chr9:9q33.2		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_014222.3(NDUFA8):c.164G>A (p.Arg55Gln) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 37 [RCV003333102]|not provided [RCV000729161] Chr9:122152296 [GRCh38]
Chr9:124914575 [GRCh37]
Chr9:9q33.2		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1 copy number loss See cases [RCV000447763] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.3-33.3(chr9:113083182-126779494)x1 copy number loss not provided [RCV000748606] Chr9:113083182..126779494 [GRCh37]
Chr9:9q31.3-33.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.2-33.3(chr9:124604592-126306080)x1 copy number loss not provided [RCV001006270] Chr9:124604592..126306080 [GRCh37]
Chr9:9q33.2-33.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_014222.3(NDUFA8):c.139C>T (p.Arg47Cys) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 37 [RCV001374462] Chr9:122152321 [GRCh38]
Chr9:124914600 [GRCh37]
Chr9:9q33.2		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089) copy number loss not specified [RCV002052825] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11		 pathogenic
GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1 copy number loss not provided [RCV001834516] Chr9:120045175..127335905 [GRCh37]
Chr9:9q33.1-33.3		 pathogenic
NM_014222.3(NDUFA8):c.95A>G (p.Tyr32Cys) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 37 [RCV002226981]|not specified [RCV004641941] Chr9:122152365 [GRCh38]
Chr9:124914644 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_014222.3(NDUFA8):c.403C>T (p.Arg135Ter) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 37 [RCV002226921] Chr9:122144357 [GRCh38]
Chr9:124906636 [GRCh37]
Chr9:9q33.2		 likely pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_014222.3(NDUFA8):c.140G>A (p.Arg47His) single nucleotide variant not specified [RCV004310009] Chr9:122152320 [GRCh38]
Chr9:124914599 [GRCh37]
Chr9:9q33.2		 uncertain significance
GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1 copy number loss not provided [RCV002474540] Chr9:124018736..129995568 [GRCh37]
Chr9:9q33.2-33.3		 pathogenic
NM_014222.3(NDUFA8):c.182A>G (p.Lys61Arg) single nucleotide variant not specified [RCV004143720] Chr9:122152278 [GRCh38]
Chr9:124914557 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_014222.3(NDUFA8):c.229C>G (p.His77Asp) single nucleotide variant not specified [RCV004196918] Chr9:122148264 [GRCh38]
Chr9:124910543 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_014222.3(NDUFA8):c.401A>G (p.Asp134Gly) single nucleotide variant not specified [RCV004231067] Chr9:122144359 [GRCh38]
Chr9:124906638 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_014222.3(NDUFA8):c.12A>G (p.Ile4Met) single nucleotide variant not specified [RCV004279180] Chr9:122159666 [GRCh38]
Chr9:124921945 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_014222.3(NDUFA8):c.227G>A (p.Arg76His) single nucleotide variant not specified [RCV004343552] Chr9:122148266 [GRCh38]
Chr9:124910545 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_014222.3(NDUFA8):c.37C>G (p.Leu13Val) single nucleotide variant not specified [RCV004339538] Chr9:122159641 [GRCh38]
Chr9:124921920 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_014222.3(NDUFA8):c.130A>G (p.Met44Val) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 37 [RCV003458954] Chr9:122152330 [GRCh38]
Chr9:124914609 [GRCh37]
Chr9:9q33.2		 uncertain significance
GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1 copy number loss not specified [RCV003986827] Chr9:122755951..127551056 [GRCh37]
Chr9:9q33.2-33.3		 pathogenic
NM_014222.3(NDUFA8):c.226C>T (p.Arg76Cys) single nucleotide variant not specified [RCV004484534] Chr9:122148267 [GRCh38]
Chr9:124910546 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_014222.3(NDUFA8):c.352G>C (p.Val118Leu) single nucleotide variant not specified [RCV004484544] Chr9:122148141 [GRCh38]
Chr9:124910420 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_014222.3(NDUFA8):c.467G>C (p.Gly156Ala) single nucleotide variant not specified [RCV004484554] Chr9:122144293 [GRCh38]
Chr9:124906572 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_014222.3(NDUFA8):c.93C>G (p.His31Gln) single nucleotide variant not specified [RCV004641410] Chr9:122152367 [GRCh38]
Chr9:124914646 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_014222.3(NDUFA8):c.74T>C (p.Leu25Pro) single nucleotide variant not specified [RCV004654627] Chr9:122152386 [GRCh38]
Chr9:124914665 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_014222.3(NDUFA8):c.306A>G (p.Lys102=) single nucleotide variant not provided [RCV004811957] Chr9:122148187 [GRCh38]
Chr9:124910466 [GRCh37]
Chr9:9q33.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:481
Count of miRNA genes:394
Interacting mature miRNAs:418
Transcripts:ENST00000373768, ENST00000537618
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597320682GWAS1416756_HX-21339 measurement QTL GWAS1416756 (human)0.000003X-21339 measurement9122157670122157676Human
597098773GWAS1194847_Hmalaria QTL GWAS1194847 (human)0.000001malaria9122159474122159475Human
597099492GWAS1195566_Hmalaria QTL GWAS1195566 (human)0.0000009malaria9122159474122159475Human
597101219GWAS1197293_Hmalaria QTL GWAS1197293 (human)0.000005malaria9122159474122159475Human
597058112GWAS1154186_Hadolescent idiopathic scoliosis QTL GWAS1154186 (human)0.0000001adolescent idiopathic scoliosis9122134810122134811Human
407028533GWAS677509_Haspartate aminotransferase measurement QTL GWAS677509 (human)0.000006aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)9122144444122144445Human
597334560GWAS1430634_HCOVID-19 QTL GWAS1430634 (human)0.0000008COVID-199122136851122136852Human
597239431GWAS1335505_Hneuroimaging measurement QTL GWAS1335505 (human)0.0000003neuroimaging measurement9122146020122146021Human

Markers in Region
G54050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379124,914,534 - 124,914,675UniSTSGRCh37
Build 369123,954,355 - 123,954,496RGDNCBI36
Celera995,562,823 - 95,562,964RGD
Cytogenetic Map9q33.2UniSTS
HuRef994,529,286 - 94,529,427UniSTS
NDUFA8_8498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379124,906,144 - 124,906,659UniSTSGRCh37
Build 369123,945,965 - 123,946,480RGDNCBI36
Celera995,554,432 - 95,554,947RGD
HuRef994,520,894 - 94,521,409UniSTS
WI-16104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379124,906,360 - 124,906,485UniSTSGRCh37
Build 369123,946,181 - 123,946,306RGDNCBI36
Celera995,554,648 - 95,554,773RGD
Cytogenetic Map9q33.2UniSTS
HuRef994,521,110 - 94,521,235UniSTS
GeneMap99-GB4 RH Map9377.11UniSTS
Whitehead-RH Map9455.0UniSTS
RH78545  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q33.2UniSTS
GeneMap99-GB4 RH Map9382.2UniSTS
NCBI RH Map91158.5UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1723 2345 4 622 1948 464 2268 7281 6454 52 3708 847 1731 1612 171

Sequence


Ensembl Acc Id: ENST00000373768   ⟹   ENSP00000362873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9122,144,058 - 122,159,779 (-)Ensembl
RefSeq Acc Id: NM_001318195   ⟹   NP_001305124
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,132,466 - 122,159,779 (-)NCBI
CHM1_19125,042,804 - 125,070,162 (-)NCBI
T2T-CHM13v2.09134,329,934 - 134,357,249 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014222   ⟹   NP_055037
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,144,058 - 122,159,779 (-)NCBI
GRCh379124,894,745 - 124,922,098 (-)NCBI
Build 369123,946,158 - 123,961,919 (-)NCBI Archive
Celera995,554,625 - 95,570,387 (-)RGD
HuRef994,521,087 - 94,536,866 (-)RGD
CHM1_19125,054,401 - 125,070,162 (-)NCBI
T2T-CHM13v2.09134,341,527 - 134,357,249 (-)NCBI
Sequence:
RefSeq Acc Id: NP_055037   ⟸   NM_014222
- Peptide Label: isoform 1
- UniProtKB: P51970 (UniProtKB/Swiss-Prot),   B1AM93 (UniProtKB/Swiss-Prot),   Q9Y6N0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001305124   ⟸   NM_001318195
- Peptide Label: isoform 2
- UniProtKB: B7Z768 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000362873   ⟸   ENST00000373768
Protein Domains
CHCH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P51970-F1-model_v2 AlphaFold P51970 1-172 view protein structure

Promoters
RGD ID:7216055
Promoter ID:EPDNEW_H13774
Type:initiation region
Name:NDUFA8_1
Description:NADH:ubiquinone oxidoreductase subunit A8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389122,159,779 - 122,159,839EPDNEW
RGD ID:6807885
Promoter ID:HG_KWN:64795
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_198469,   OTTHUMT00000053909
Position:
Human AssemblyChrPosition (strand)Source
Build 369123,961,151 - 123,961,957 (+)MPROMDB
RGD ID:6852920
Promoter ID:EP74279
Type:initiation region
Name:HS_NDUFA8
Description:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 369123,961,875 - 123,961,935EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7692 AgrOrtholog
COSMIC NDUFA8 COSMIC
Ensembl Genes ENSG00000119421 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000373768 ENTREZGENE
  ENST00000373768.4 UniProtKB/Swiss-Prot
GTEx ENSG00000119421 GTEx
HGNC ID HGNC:7692 ENTREZGENE
Human Proteome Map NDUFA8 Human Proteome Map
InterPro CHCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NDUFA8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4702 UniProtKB/Swiss-Prot
NCBI Gene 4702 ENTREZGENE
OMIM 603359 OMIM
PANTHER NADH DEHYDROGENASE [UBIQUINONE] 1 ALPHA SUBCOMPLEX SUBUNIT 8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13344 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CHCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31498 PharmGKB
PIRSF NDUA8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CHCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B1AM93 ENTREZGENE
  B7Z768 ENTREZGENE, UniProtKB/TrEMBL
  NDUA8_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9Y6N0 ENTREZGENE
UniProt Secondary B1AM93 UniProtKB/Swiss-Prot
  Q9Y6N0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 NDUFA8  NADH:ubiquinone oxidoreductase subunit A8  NDUFA8  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa  Symbol and/or name change 5135510 APPROVED